syndrome

The News We’ve Been Waiting for: “Gene Therapy Program for Rett Syndrome will be advanced by biotech company.” Last week RSRT sent out an email announcing they will be going to a Gene therapy trial for Rett. Reading those words took my breath away. I froze for a moment. My hands were shaking. Since Maggie was diagnosed, I[…]

Today we are 10 days free of seizures (that we know of). After the last hospital visit and 48 hour video EEG, the doctor said they were happy with her meds. AJ and I were both happy, confused, and nervous. She didn’t have any seizures while we did the EEG, but we had still seen[…]

We are on our way to CHLA today for a 48 hour video EEG. Yep, that is where we are. We are now dealing with seizures. This has been happening for the past couple of months. We haven’t really discussed it, because we’ve been trying to get a handle on it. About 2 months ago, we[…]

We leave for NYC next week and couldn’t be more excited. Well, we could be a little more excited. Maggie came down with a cold and we are walking on pins and needles waiting to see what happens. But fortunately, she’s already getting better and we know she does not want to miss her cousin[…]

Everywhere I look, I see people saying 2016 was the worst year. I get it. There is no doubt 2016 was extremely difficult for us. You guys have watched Maggie push through so many obstacles that Rett has thrown at her. The past few years, we celebrated her accomplishments more than not. Then 2016 happened.[…]

In Los Angeles, everything shuts down for the final two weeks of the year, as everyone escapes back to their family or goes on vacation. We’re fortunate to be able to do both most years. We typically spend Christmas in Texas with Jenny’s family and then go do a vacation with my family some place[…]

13.1 Miles. I have never aspired to be a runner. Two years ago, I downloaded the couch to 5K app on my phone. I thought, well it’d be nice if I could run a 5K, that’s 3.1 miles. Who knew that two years later, I’d be running my 3rd half marathon, 13.1 miles. It’s not[…]

Last week Jenny wrote about her birthday and the mixed emotions that come with it. This week, I wanted to share a little more detail about that. 5 is an important year for a lot of reasons. In my family there are no more important birthday than the ages ending in zero and five. So,[…]

When I look at her I don’t see her arms flapping. I see a little girl trying to fly. When I look at her I don’t see a girl struggling to breathe I see a girl who takes my breath away When I look at her I don’t see a girl who walks with a[…]

Rett is a progressive disorder – it will get worse and worse until there is a cure. In other words, we are never out of the woods. Every girl’s Rett syndrome is different. These were Maggie’s Rett symptoms last year. Maggie has lost her speech. Maggie’s arms & hands have Parkinson’s like tremors. Maggie hasn’t[…]